A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4329056



Internal ID20185522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:96337107..96338134hg38UCSC Ensembl
chr9:99099389..99100416hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg381028
hg191028
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090456
Samples
Known GenesSLC35D2
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4329056
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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